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Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review.

Aurora ArghirSorina Mihaela PapucAndreea-Cristina Tutulan-CunitaAlina ErbescuSara LoddoSilvia GenoveseLaura CioccaMarina GoldoniCarmelo PiscopoLaura BernardiniAntonio NovelliMagdalena Budisteanu
Published in: Clinical case reports (2020)
Interstitial 8p deletions were previously described, in literature and databases, in approximately 30 patients with neurodevelopmental disorders. We report on a novel patient with a 8p21.2p11.21 deletion presenting a clinical phenotype that includes severe intellectual disability, microcephaly, epilepsy, and autism, the latter having been rarely associated with this genetic defect.
Keyphrases
  • intellectual disability
  • autism spectrum disorder
  • case report
  • systematic review
  • early onset
  • gene expression
  • drug induced
  • big data
  • congenital heart disease
  • artificial intelligence
  • deep learning